Pediatric Skeletal Dysplasias

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What Is Skeletal Dysplasia?

Skeletal dysplasia describes a category of rare genetic disorders that affect bones and joints and hinder children’s growth and development. The disorder causes abnormally shaped bones, especially in the head, spine, and long bones of the arms and legs. Children with skeletal dysplasia often have limbs that are too short compared with the rest of the body.

Spinal problems including curving, bowing, or narrowing (stenosis) of the spine

Fluid buildup around the brain

Obesity

Chronic ear infections

What Causes Skeletal Dysplasia?

The condition is caused by defective genes that either are inherited from a parent or mutate randomly during fetal development.The specific defective gene responsible for a certain skeletal dysplasia is often hard to detect.

Types of Skeletal Dysplasia

Of more than 200 types of skeletal dysplasia, these are some commonly known types:

Prenatal genetic testing, including amniocentesis, to identify gene mutations in families with a history of skeletal dysplasia

Post-natal genetic testing

Treatments for Skeletal Dysplasia

Treatments can help relieve orthopaedic and medical problems related to skeletal dysplasia. The pediatric team at Children’s National may recommend one or more of these options depending on your child’s condition:

Growth hormone treatment for children with dwarfism related to growth hormone deficiency

Physical therapy to improve muscle strength and range of motion in joints

The Genetics and Metabolism and Oncology established the Cancer Genetics Clinic to help family members understand their personal risk of developing cancer and to learn more about the risk for their loved ones.

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